Incidental Mutation 'R6156:Zfp386'
ID 489609
Institutional Source Beutler Lab
Gene Symbol Zfp386
Ensembl Gene ENSMUSG00000042063
Gene Name zinc finger protein 386 (Kruppel-like)
Synonyms
MMRRC Submission 044303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6156 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 116011334-116026851 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116023526 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 380 (S380P)
Ref Sequence ENSEMBL: ENSMUSP00000073241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073551] [ENSMUST00000183125]
AlphaFold Q1WWJ5
Predicted Effect probably damaging
Transcript: ENSMUST00000073551
AA Change: S380P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073241
Gene: ENSMUSG00000042063
AA Change: S380P

DomainStartEndE-ValueType
KRAB 6 66 1.88e-19 SMART
ZnF_C2H2 379 401 4.72e-2 SMART
ZnF_C2H2 407 429 6.42e-4 SMART
ZnF_C2H2 435 457 5.14e-3 SMART
ZnF_C2H2 463 485 2.09e-3 SMART
ZnF_C2H2 491 513 6.42e-4 SMART
ZnF_C2H2 519 541 4.87e-4 SMART
ZnF_C2H2 547 569 1.28e-3 SMART
ZnF_C2H2 575 597 2.2e-2 SMART
ZnF_C2H2 603 625 5.99e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182566
Predicted Effect probably damaging
Transcript: ENSMUST00000183125
AA Change: S415P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138305
Gene: ENSMUSG00000042063
AA Change: S415P

DomainStartEndE-ValueType
KRAB 6 66 1.88e-19 SMART
ZnF_C2H2 379 401 4.72e-2 SMART
ZnF_C2H2 407 429 6.42e-4 SMART
ZnF_C2H2 435 457 5.14e-3 SMART
ZnF_C2H2 463 485 2.09e-3 SMART
ZnF_C2H2 491 513 6.42e-4 SMART
ZnF_C2H2 519 541 4.87e-4 SMART
ZnF_C2H2 547 569 1.28e-3 SMART
ZnF_C2H2 575 597 2.2e-2 SMART
ZnF_C2H2 603 625 5.99e-4 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.9%
Validation Efficiency 97% (68/70)
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 T G 15: 64,689,488 (GRCm39) probably null Het
Ank2 T C 3: 126,737,886 (GRCm39) D2579G probably damaging Het
Atp6v1b1 G C 6: 83,735,115 (GRCm39) G423R probably damaging Het
B4galnt3 T C 6: 120,191,801 (GRCm39) N644S probably benign Het
Bhmt1b C A 18: 87,775,231 (GRCm39) Y251* probably null Het
Capsl T G 15: 9,465,920 (GRCm39) M132R probably damaging Het
Cep120 A G 18: 53,836,295 (GRCm39) Y797H probably benign Het
Cimip4 T C 15: 78,263,013 (GRCm39) T214A probably damaging Het
Clec2e T A 6: 129,072,061 (GRCm39) D106V possibly damaging Het
Col6a2 C T 10: 76,440,004 (GRCm39) V634I possibly damaging Het
Dis3 T C 14: 99,336,215 (GRCm39) E97G probably benign Het
Dlec1 T C 9: 118,939,281 (GRCm39) probably null Het
Dock2 C A 11: 34,197,789 (GRCm39) V1484F possibly damaging Het
Ephb2 T A 4: 136,388,816 (GRCm39) M593L probably benign Het
Fcgrt T C 7: 44,751,484 (GRCm39) T125A probably benign Het
Gabbr1 T C 17: 37,359,319 (GRCm39) I98T probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gfod1 T C 13: 43,354,514 (GRCm39) S154G possibly damaging Het
Ggt5 C T 10: 75,445,160 (GRCm39) T389I probably damaging Het
Got2 A G 8: 96,598,896 (GRCm39) F169L probably benign Het
Gse1 A G 8: 121,215,866 (GRCm39) K5E possibly damaging Het
Hyal5 T C 6: 24,891,437 (GRCm39) I417T possibly damaging Het
Igkv4-91 G T 6: 68,745,607 (GRCm39) T97K probably damaging Het
Il4i1 T C 7: 44,489,608 (GRCm39) Y458H possibly damaging Het
Impg1 A T 9: 80,230,106 (GRCm39) C740S probably damaging Het
Itgb1 C G 8: 129,458,535 (GRCm39) T788R possibly damaging Het
Lman2l A G 1: 36,477,907 (GRCm39) V143A probably damaging Het
Ltbp4 G T 7: 27,029,587 (GRCm39) T136K unknown Het
Macf1 A G 4: 123,366,073 (GRCm39) I1331T probably benign Het
Mmp11 G A 10: 75,762,325 (GRCm39) A336V probably damaging Het
Myh2 A T 11: 67,071,879 (GRCm39) I536F probably damaging Het
Myh4 A G 11: 67,141,618 (GRCm39) M826V probably benign Het
Naca T C 10: 127,875,160 (GRCm39) probably benign Het
Nr4a2 A G 2: 57,002,364 (GRCm39) Y30H probably damaging Het
Or12j4 A G 7: 140,046,758 (GRCm39) T215A probably benign Het
Or1e35 A T 11: 73,797,447 (GRCm39) Y290* probably null Het
Or2n1d T A 17: 38,646,064 (GRCm39) N5K probably damaging Het
Or4a67 T A 2: 88,597,934 (GRCm39) I242L probably benign Het
Or4f14d A T 2: 111,960,445 (GRCm39) L237Q probably damaging Het
Or4k42 A T 2: 111,320,095 (GRCm39) M136K probably damaging Het
Or4z4 A G 19: 12,076,484 (GRCm39) V173A possibly damaging Het
Or8g22 T A 9: 38,958,671 (GRCm39) M15L possibly damaging Het
Paqr3 A C 5: 97,256,128 (GRCm39) L82R probably damaging Het
Pex6 C T 17: 47,031,567 (GRCm39) P456S probably benign Het
Pih1d2 A T 9: 50,532,452 (GRCm39) K186I possibly damaging Het
Plekhh3 A G 11: 101,061,013 (GRCm39) probably benign Het
Ptpn23 C A 9: 110,216,849 (GRCm39) probably benign Het
Rcor3 T A 1: 191,812,142 (GRCm39) probably benign Het
Rgs11 T A 17: 26,429,439 (GRCm39) Y403* probably null Het
Scn10a T C 9: 119,464,649 (GRCm39) N984D probably benign Het
Snx14 C T 9: 88,289,392 (GRCm39) A287T possibly damaging Het
Stx3 T C 19: 11,780,874 (GRCm39) D33G probably damaging Het
Tacc2 A G 7: 130,227,494 (GRCm39) K1393R probably damaging Het
Tas2r129 T C 6: 132,928,455 (GRCm39) S131P probably benign Het
Tbx15 G T 3: 99,220,431 (GRCm39) probably null Het
Thada A G 17: 84,700,795 (GRCm39) V1237A probably damaging Het
Tnc A G 4: 63,888,589 (GRCm39) Y1735H probably damaging Het
Ttc22 A G 4: 106,495,780 (GRCm39) K378R probably benign Het
Tubg2 A G 11: 101,051,635 (GRCm39) K287E possibly damaging Het
Ugt3a1 T C 15: 9,310,762 (GRCm39) I348T possibly damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Unc80 A T 1: 66,651,409 (GRCm39) I1585F probably benign Het
Vmn2r104 T C 17: 20,261,909 (GRCm39) Y407C probably damaging Het
Vmn2r108 T A 17: 20,692,447 (GRCm39) L136F probably benign Het
Vmn2r38 A G 7: 9,097,611 (GRCm39) S161P probably damaging Het
Vmn2r90 T C 17: 17,953,606 (GRCm39) I590T probably benign Het
Washc5 T C 15: 59,217,248 (GRCm39) E323G probably damaging Het
Wdhd1 C T 14: 47,505,653 (GRCm39) G273D probably damaging Het
Xpo6 G T 7: 125,708,016 (GRCm39) Q851K probably damaging Het
Zfp536 A G 7: 37,173,281 (GRCm39) C274R unknown Het
Zfp64 A G 2: 168,768,088 (GRCm39) I508T probably benign Het
Other mutations in Zfp386
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Zfp386 APN 12 116,022,788 (GRCm39) missense probably benign
IGL02692:Zfp386 APN 12 116,022,855 (GRCm39) missense probably damaging 0.96
IGL03071:Zfp386 APN 12 116,022,760 (GRCm39) missense probably benign 0.08
F5493:Zfp386 UTSW 12 116,023,922 (GRCm39) missense probably damaging 0.99
R0098:Zfp386 UTSW 12 116,022,834 (GRCm39) nonsense probably null
R0098:Zfp386 UTSW 12 116,022,834 (GRCm39) nonsense probably null
R0372:Zfp386 UTSW 12 116,018,436 (GRCm39) missense possibly damaging 0.71
R0784:Zfp386 UTSW 12 116,023,540 (GRCm39) nonsense probably null
R0866:Zfp386 UTSW 12 116,018,329 (GRCm39) splice site probably benign
R0947:Zfp386 UTSW 12 116,023,398 (GRCm39) missense probably benign 0.11
R1080:Zfp386 UTSW 12 116,023,426 (GRCm39) nonsense probably null
R1517:Zfp386 UTSW 12 116,023,225 (GRCm39) missense possibly damaging 0.67
R1597:Zfp386 UTSW 12 116,023,709 (GRCm39) missense probably damaging 0.99
R1722:Zfp386 UTSW 12 116,023,526 (GRCm39) missense probably damaging 0.99
R2043:Zfp386 UTSW 12 116,022,781 (GRCm39) missense probably benign 0.22
R3741:Zfp386 UTSW 12 116,023,170 (GRCm39) nonsense probably null
R3742:Zfp386 UTSW 12 116,023,170 (GRCm39) nonsense probably null
R3902:Zfp386 UTSW 12 116,023,775 (GRCm39) missense probably damaging 1.00
R5012:Zfp386 UTSW 12 116,022,864 (GRCm39) missense probably benign
R5590:Zfp386 UTSW 12 116,023,347 (GRCm39) missense probably benign 0.41
R5709:Zfp386 UTSW 12 116,023,305 (GRCm39) missense probably benign 0.23
R6184:Zfp386 UTSW 12 116,024,133 (GRCm39) missense possibly damaging 0.64
R6423:Zfp386 UTSW 12 116,023,733 (GRCm39) missense probably damaging 0.96
R8015:Zfp386 UTSW 12 116,023,027 (GRCm39) missense probably damaging 0.96
R8120:Zfp386 UTSW 12 116,018,573 (GRCm39) missense unknown
R8137:Zfp386 UTSW 12 116,023,268 (GRCm39) missense possibly damaging 0.91
R9093:Zfp386 UTSW 12 116,023,878 (GRCm39) nonsense probably null
R9269:Zfp386 UTSW 12 116,023,283 (GRCm39) missense probably benign 0.01
R9320:Zfp386 UTSW 12 116,023,517 (GRCm39) missense probably damaging 1.00
R9331:Zfp386 UTSW 12 116,011,433 (GRCm39) start gained probably benign
R9536:Zfp386 UTSW 12 116,023,686 (GRCm39) missense probably damaging 1.00
R9641:Zfp386 UTSW 12 116,023,330 (GRCm39) missense probably benign 0.03
Z1088:Zfp386 UTSW 12 116,018,393 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TCATTACAAGAGTATAGATTGTGACAC -3'
(R):5'- CTGATAGTGACCTGTAAATAAGTCAGA -3'

Sequencing Primer
(F):5'- GGCGTAAAATTCAGCATTCC -3'
(R):5'- GAACATTGGGTAAAGGCCTTTCCAC -3'
Posted On 2017-10-10